Revista de Hematología

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>Journals >Revista de Hematología >Year 2013, Issue 1

Palacios-Boix A, Garcés-Eisele J
Urticaria pigmentosa demonstrated by matching mutation. Case report and review of the medical literature
Rev Hematol Mex 2013; 14 (1)

Language: Español
References: 14
Page: 43-46
PDF: 650.24 Kb.

Full text


We present a case of indolent Systemic Mastocytosis (ISM) that was readily documented by mutation analysis of allele-specific PCR disclosing KITD816V in his peripheral blood. Clinical and laboratory characteristics are discussed, along with the prognostic implications of this cytogenetic finding. This patient illustrates the relevance of disclosing molecular markers in patients with hematologic diseases that harbor the inherent potential to undergo malignant transformation.

Key words: Mastocytosis, D816V Mutation, Urticaria pigmentosa.


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>Journals >Revista de Hematología >Year 2013, Issue 1

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